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Genes (Basel) 2021 Mar 5;12(3). Epub 2021 Mar 5.

Department of Obstetrics and Gynaecology, Chinese University of Hong Kong, Hong Kong, China.

Tetrasomy 9p (ORPHA:3390) is a rare syndrome, hallmarked by growth retardation; psychomotor delay; mild to moderate intellectual disability; and a spectrum of skeletal, cardiac, renal and urogenital defects. Here we present a Chinese female with good past health who conceived her pregnancy naturally. Non-invasive prenatal testing (NIPT) showed multiple chromosomal aberrations were consistently detected in two sampling times, which included elevation in DNA from chromosome 9p. Read More

Clin Neurophysiol 2021 Mar 10;132(5):1126-1137. Epub 2021 Mar 10.

Department of Clinical Neurophysiology, Necker-Enfants-Malades Hospital, Assistance Publique -Hôpitaux de Paris, Paris, France; Université de Paris, Paris, France.

Objective: We aimed to describe epilepsy and EEG patterns related to vigilance states and age, in chromosome15-long-arm-duplication-syndrome (dup15q) children with epilepsy, in both duplication types: interstitial (intdup15) and isodicentric (idic15).

Methods: Clinical data and 70 EEGs of 12 patients (5 intdup15, 7 idic15), followed from 4.5 m. Read More

J Assoc Genet Technol 2021 ;47(1):24-29

The International Circle of Genetics Studies, Los Angeles, CA.

Objectives: A 67-year-old male patient was diagnosed with acute myeloid leukemia (AML) in April 2018. Chromosome analysis showed an abnormal male karyotype with an isodicentric chromosome 7q resulting in deletion 7q and two copies of 7p and a derivative chromosome 18 in 13 of the 20 metaphase cells examined. This karyotype was described as 46,XY,idic(7)(q11. Read More

Sex Dev 2021 Mar 5:1-9. Epub 2021 Mar 5.

Institute of Human Genetics, School of Medicine, Pontificia Universidad Javeriana, Bogotá, Colombia,

Isodicentric Y chromosome [idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with reproductive disorders and in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45,X cell line. These chromosomes are highly unstable during mitosis due to the presence of 2 centromers, which explains their probable loss in early mitosis or mitosis of the embryo and therefore the presence of the 45,X line. Read More

Aging (Albany NY) 2020 12 9;13(2):2135-2148. Epub 2020 Dec 9.

Department of Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou 350001, Fujian, P.R. China.

Small supernumerary marker chromosomes cannot be accurately identified by G-banding, and the related phenotypes vary greatly. It is essential to specify the origin, size, and gene content of marker chromosomes using molecular cytogenetic techniques. Herein, three fetuses with marker chromosomes were initially identified by G-banding. Read More